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  • Title: β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].
    Author: Waye JS, Hanna M, Hohenadel BA, Nakamura L, Walker L, Eng B, Nfonsam LE.
    Journal: Hemoglobin; 2024 Jan; 48(1):69-70. PubMed ID: 38425097.
    Abstract:
    We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, HBB:c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal. The HBB:c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A2 β0-thal.
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